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I am a Pediatrician and Geneticist
at the newly formed National Center for Human Genome
Research at the National Institutes of Health.
The goals of our center are to study the causes and
treatment of birth defects, adult-onset disorders;
bone disorders, cancer, and many other types of genetic
conditions. My background is in the diagnosis, care
and counseling of patients and families affected with
pediatric birth defect syndromes.
As an introduction, my medical degree is from the
University of Illinois. My Pediatric training was
at the University of Wisconsin, and my Genetics training
was at the University of Michigan. While at Michigan,
I became very interested in the V A TER association
based on my contact with several affected families.
The TEF/V ATER National Support Group was brought
to my attention by one of those Michigan families,
the Kitchens of Ann Arbor (who kindly gave me permission
to use their name in this article).
The purpose of my research study is to learn the cause
of the VATER association. I want to understand the
cause of the birth defects that make up the V A TER
Association so that I, and other health professionals,
can help families affected by the disorder. Currently,
little is known about the recurrence risk of' the
disorder and the prognosis for an affected individual.
An important way to answer these questions is to know
the
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cause of the malformations. The cause
of VATER association is unknown, and it is my goal
to learn if a new kind of chromosome abnormality could
be a cause.
To understand this study you need to know how chromosomes
are normally inherited. Humans have 46 chromosomes
that are in 23 pairs. At the time that a baby is formed,
he or she gets one member of the 23 pairs of chromosomes
from the egg and one member from the sperm. It has
recently been learned that a child can get both members
of a chromosome pair from one parent and one of that
pair from the other parent. For example, they may
receive 24 chromosomes from the egg and 22 from the
sperm. Research has shown that this inheritance of
chromosomes can cause medical problems in humans and
in animals. A second chromosome abnormality is that
small pieces of the chromosomes can switch places
and be lost or duplicated.
Neither of these chromosome abnormalities are detectable
with the standard chromosome test that your son or
daughter most likely has already had. That is why
I am writing this article. I am seeking your participation
and the participation of your affected child in a
research study to determine if these chromosome abl1ormalities
may be the cause of the kinds of problems your child
has experienced.
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To obtain the right mix of study
participants and to define a consistent patient group,
I have made a set of eligibility criteria for the
study. These criteria are for this study only and
should not change the opinion of you or your doctors
about your particular situation. For instance, if
your child has been diagnosed with V A TER association
but does not meet the criteria for this study, this
should not change your Doctor's assessment. This difference
in research and clinical diagnostic criteria is one
of the important differences between research and
standard clinical care. It is crucial that research
studies have rigidly defined criteria while patient
care needs dictate that diagnostic criteria be more
flexible.
The eligibility criteria are:
A. Anomalies in
3 (or more) of the following 6 anomaly
groups.
1) vertebral segmentati0l1 anomaly,
2) anal atresia,
3) structural cardiac defect,
4) tracheo-esophageal fistula(any
of types A-E),
5) renal dysplasia, hypoplasia, aplasia
(unilateral or bilateral),
6) radial dysplasia (thumb or radial
hypoplasia, preaxial polydactyly or syndactyly).
B. Anomalies outside of the above
groups are acceptable.
C. Normal standard chromosome study.
D. Does not meet commonly accepted
clinical criteria for any other syndrome.
E. No family history of a similar
disorder
Patients of either gender and all ethnic and racial
groups will be accepted.
For both groups, samples will be accepted only if
the patient, mother and father can donate specimens.
Before you agree to participate, however, you should
carefully read the consent form to learn about the
risks of the study. These include privacy, insurability
, and other important issues. For those who are willing
and eligible for study
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entry, participation will involve
giving about three teaspoons of blood drawn from adults
and 1-3 teaspoons from children (depending on their
size) by standard procedures. If you are interested
in participating in this project, I or my associates
will make arrangements to review the medical records
of the subject to confirm that they meet the criteria.
If the criteria are met. we will make arrangements
for the blood to be drawn and shipped to the National
Institutes of Health.
There are no charges for the analysis performed in
this study .
The results of the study will be provided to all participants.
We will report the individual result for each participant
to the family. We will also provide you with results
of the entire group' every year (although no identifying
information will be given, just the general results).
Because this is a research project, 1 cannot prom
ise that we will find either of the chromosome changes.
It is also possible that the analysis can not be performed
on some families for technical reasons.
The goal of the project is to learn more about VATER
association, a disorder whose cause is very poorly
understood. Like many parents and geneticists, I am
unsatisfied with our ability to explain what causes
these malformations, the risk of recurrence, and the
prognosis of affected persons. It is only with the
help of affected families that we can improve our
knowledge and answer these questions.
Thank you for your willingness to consider this request.
If you are interested in participating or would like
more information, please contact Ms. Margaret Abbott
at 41 0-614-0412 or me at the number below.
Sincerely,
Leslie G. Biesecker, MD Telephone: 301-402-2041 Telefax:
301-402-2170
Email: leslieb@helix.nih.gov
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